ABSTRACT
BACKGROUND: To report the clinical, histopathological and immunohistochemical findings of two novel mutations within the TGFBI gene. METHODS: The genotype of 41 affected members of 16 families and nine sporadic cases was investigated by direct sequencing of the TGFBI gene. Clinical, histological and immunohistochemical characteristics of corneal opacification were reported and compared with the coding region changes in the TGFBI gene. RESULTS: A novel mutation Leu509Pro was detected in one family with a geographic pattern-like clinical phenotype. Histopathologically we found amyloid together with non-amyloid deposits and immunohistochemical staining of Keratoepithelin (KE) KE2 and KE15 antibodies. In two families and one sporadic case the novel mutation Gly623Arg with a late-onset, map-like corneal dystrophy was identified. Here amyloid and immunohistochemical staining of only KE2 antibodies occurred. Further, five already known mutations are reported: Arg124Cys Arg555Trp Arg124His His626Arg, Ala546Asp in 13 families and five sporadic cases of German origin. The underlying gene defect within the TBFBI gene was not identified in any of the four probands with Thiel-Behnke corneal dystrophy. CONCLUSIONS: The two novel mutations within the TGFBI gene add another two phenotypes with atypical immunohistochemical and histopathological features to those so far reported.
Subject(s)
Corneal Dystrophies, Hereditary/genetics , Extracellular Matrix Proteins/genetics , Genetic Predisposition to Disease/genetics , Mutation/genetics , Transforming Growth Factor beta/genetics , Visual Acuity/genetics , Adult , Age Factors , Corneal Dystrophies, Hereditary/pathology , DNA Mutational Analysis , Female , Humans , Male , Pedigree , Phenotype , Young AdultABSTRACT
By means of nyctometry we examinated in a group of normal persons and in a group of juvenile diabetics if the adaptability of the adaptation system in possible under various conditions of initial adaptation. It appears, that nondiabetics possess a sufficiently reactive functional system, while in diabetics, we found a defective functional reaction of the adaptation system because of beginning retinopathy.
Subject(s)
Dark Adaptation , Diabetic Retinopathy/physiopathology , Adolescent , Adult , Humans , Middle Aged , Orientation , Time FactorsABSTRACT
In the early stages of development the diabetic retinopathy often causes disturbances of initial-phase of the dark adaptation even if other functional defects are not evident. In a group of eyes with normal vision of 153 diabetics (296 eyes), only 55% of the cases reached results, which correspond to the norm of nyktometry.
